OMIA 001485-9615 : Dwarfism, PRKG2-related in Canis lupus familiaris

In other species: cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 601591 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2021

Cross-species summary: 'Dwarfism, Angus' was renamed to 'Dwarfism, PRKG2-related' [29/10/2021]

Inheritance: Rudd Garces et al. (2021) reported evidence consistent with autosomal recessive inheritance.

Mapping: Rudd Garces et al. (2021): "... combined linkage and homozygosity mapping assigned the most likely position of a potential genetic defect to 34 genome segments, totaling 125 Mb."

Molecular basis: Rudd Garces et al. (2021): "The genome of an affected dog was sequenced and compared to 795 control genomes. The prioritization of private variants revealed a clear top candidate variant for the observed dwarfism. This variant, PRKG2:XM_022413533.1:c.1634+1G>T, affects the splice donor site and is therefore predicted to disrupt the function of the PKRG2 gene .... "

Clinical features: Rudd Garces et al. (2021) "investigated a family of nine Dogo Argentino dogs, in which two dogs were affected by disproportionate dwarfism. Radiographs of an affected dog revealed a decreased level of endochondral ossification in its growth plates, and a premature closure of the distal ulnar physes."

Breed: Dogo Argentino.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PRKG2 protein kinase, cGMP-dependent, type II Canis lupus familiaris 32 NC_006614.2 (8320656..8230637) PRKG2 Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1373 Dogo Argentino Dwarfism, disproportionate PRKG2 splicing Naturally occurring variant CanFam3.1 32 g.5299068C>A c.1634+1G>T cDNA position based on XM_022413533.1 2021 34680883

Reference


2021 Rudd Garces, G., Turba, M.E., Muracchini, M., Diana, A., Jagannathan, V., Gentilini, F., Leeb, T. :
<i>PRKG2</i> Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism. Genes (Basel) 12:1489, 2021. Pubmed reference: 34680883. DOI: 10.3390/genes12101489.

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  • Created by Imke Tammen2 on 29 Oct 2021